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Radial ray anomaly with associated ventricular septal defect – case report with review of literature Cover

Radial ray anomaly with associated ventricular septal defect – case report with review of literature

By: Amandeep Singh and  Mehak Arora  
Open Access
|Feb 2023

References

  1. James MA, McCarroll Jr HR, Manske PR: The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg Am 1999; 24: 1145–1155.
  2. Jones KL, Jones MC, Del Campo M: Recognizable Patterns of Human Malformation. Elsevier, Philadelphia 2006.
  3. Klopocki E, Schulze H, Strauss G, Ott C-E, Hall J, Trotier F et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007; 80: 232–240.
  4. Goldfarb CA, Wall L, Manske PR: Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal condition. J Hand Surg Am 2006; 31: 1176–1182.
  5. Kaissi AA, Klaushofer K, Krebs A, Grill F: A novel malformation complex of bilateral and symmetric preaxial radial ray- thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review. Cases J 2008; 1: 271–275.
  6. Wu C-J, Huang K-H, Liu J-Y: Prenatal 2D and 3D ultrasound diagnosis of radial ray defects. Int J Gynaecol Obstet 2011; 113: 158–159.
  7. Minette MS, Sahn DJ: Ventricular septal defects. Circulation 2006; 114: 2190–2197.
  8. Pakkasjärvi N, Koskimies E, Ritvanen A, Nietosvaara Y, Mäkitie O: Characteristics and associated anomalies in radial ray deficiencies in Finland – a population based study. Am J Med Genet A 2013; 161A: 261–267.
  9. Sofer S, Bar-Ziv J, Abeliovich D: Radial ray aplasia and renal anomalies in a father and son: a new syndrome. Am J Med Genet 1983; 14: 151–157.
  10. Bahtiyar MO, Dulay AT, Weeks BP, Friedman AH, Copel JA. Prenatal course of isolated muscular ventricular septal defects diagnosed only by color Doppler sonography: single-Institution experience. J Ultrasound Med 2008; 27: 715–720.
  11. Sylwestrzak O, Respondek-Liberska M: Gradual diagnosis and clinical importance of prenatally detected persistent left superior vena cava with absent right superior vena cava – a case report and literature review. J Ultrason 2020; 20: e146–e150.
  12. Roguin N, Du ZD, Barak M, Nasser N, Hershkowitz S, Milgram E: High prevalence of muscular ventricular septal defect in neonates. J Am Coll Cardiol 1995; 26: 1545–1548.
  13. Yang PY, Yeh GP, Hsieh CT: Prenatal diagnosis of radial ray defects by ultrasound: a report of 6 cases. Taiwan J Obstet Gynecol 2018; 57: 598–600.
  14. Moczulska H, Respondek-Liberska M: Prenatal diagnosis of Holt-Oram syndrome. Prenat Cardio 2015; 5: 29–32.
  15. Paladini D, Russo M, Teodoro A, Pacileo G, Capozzi G, Martinelli P et al. Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994–1999 – the experience of a joint fetal-pediatric cardiology unit. Prenat Diagn 2002; 22: 545–552.
DOI: https://doi.org/10.15557/JoU.2023.0007 | Journal eISSN: 2451-070X | Journal ISSN: 2084-8404
Language: English
Page range: 35 - 38
Submitted on: Sep 15, 2022
Accepted on: Oct 20, 2022
Published on: Feb 28, 2023
Published by: MEDICAL COMMUNICATIONS Sp. z o.o.
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2023 Amandeep Singh, Mehak Arora, published by MEDICAL COMMUNICATIONS Sp. z o.o.
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.